Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003110644 | SCV003782396 | uncertain significance | Very long chain acyl-CoA dehydrogenase deficiency | 2023-05-15 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ACADVL protein function. ClinVar contains an entry for this variant (Variation ID: 2415225). This variant has not been reported in the literature in individuals affected with ACADVL-related conditions. This sequence change replaces leucine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 82 of the ACADVL protein (p.Leu82Ile). |
| Ambry Genetics | RCV003341531 | SCV004060590 | uncertain significance | Inborn genetic diseases | 2023-06-21 | criteria provided, single submitter | clinical testing | The c.244C>A (p.L82I) alteration is located in exon 4 (coding exon 4) of the ACADVL gene. This alteration results from a C to A substitution at nucleotide position 244, causing the leucine (L) at amino acid position 82 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |